A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011848



Internal ID18754383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248574134..248633900hg38UCSC Ensembl
Innerchr1:248737435..248797201hg19UCSC Ensembl
Innerchr1:246804058..246863824hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3859767
hg1959767
hg1859767
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv629n100
Supporting Variantsnssv3490851, nssv3491041, nssv3708300, nssv3486508, nssv3489617, nssv3488558, nssv3493878, nssv3708299, nssv3495207, nssv3486084, nssv3483007, nssv3498167, nssv3492913, nssv3498820, nssv3498660, nssv3497478, nssv3487290, nssv3483775, nssv3502720, nssv3489486, nssv3499763, nssv3484252, nssv3490688, nssv3493621, nssv3489361, nssv3708302, nssv3708303, nssv3485185, nssv3487805, nssv3492767, nssv3487630, nssv3492961, nssv3501177, nssv3494023, nssv3483780, nssv3487308, nssv3490468, nssv3499892, nssv3487323, nssv3486242, nssv3500952, nssv3502212, nssv3708298, nssv3494848, nssv3501093, nssv3498816, nssv3708301, nssv3498084, nssv3495521, nssv3486412, nssv3494863, nssv3501583, nssv3487816, nssv3494844, nssv3494548, nssv3483404, nssv3485030
Samples
Known GenesOR2T10, OR2T11, OR2T34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011848
Frequency
Sample Size29084
Observed Gain2
Observed Loss55
Observed Complex0
Frequencyn/a


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